This application describes the development of a unique Consortium (the Sterol and Isoprenoid Diseases Research Consortium or STAIR) to study a group of diseases bound by common biochemistry, impact on health, and rarity: Cerebrotendinous Xanthomatosis (CTX), Hyperimmunoglobulinemia D with Periodic Fever Syndrome (HIDS), Niemann-Pick Disease Type C (NPC), Sitosterolemia, Sjogren-Larsson Syndrome (SLS), and Smith-Lemli-Opitz Syndrome (SLOS). STAIR activities will be performed by a team of investigators chosen for their clinical research strengths and resources, a long history of collaboration, a diverse geographic distribution to allow maximal access by potential research subjects, their individual motivation to improve the health of patients, and the commitment of their institution to support the Consortium. In five years, STAIR will conduct two major clinical studies (a longitudinal natural history study of NPC and a therapeutic trial to evaluate the efficacy of antioxidant therapy in SLOS), and six pilot research studies involving patients with either SLS, SLOS, CTX, HIDS or Sitosterolemia. Together with the Intramural NIH program, the Consortium will support a full-scale training program in the field of sterol and isoprenoid diseases and share its resources and data with the NIH RDCRN. Participating institutions include Oregon Health and Science University (OHSU), Eunice Kennedy Shriver National Institute of Child Health and Human Development, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Cincinnati Children's Hospital Medical Center, University of Nebraska Medical Center, and University of Manitoba (Canada). OHSU will be the administrative home of the Consortium. Patient support organizations (Smith Lemli Opitz/RSH Foundation, Hide and Seek Foundation, Ara Parseghian Medical Research Foundation, Dana's Angels Research Trust, Foundation for Ichthyosis and Related Skin Types, and United Leukodystrophy Foundation) will participate in Consortium activities. In summary, STAIR will foster multidisciplinary clinical research, promote training and education and support projects to explore promising leads in the understanding, diagnostics, and treatment of sterol and isoprenoid diseases.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Specialized Center--Cooperative Agreements (U54)
Project #
Application #
Study Section
Special Emphasis Panel (ZRG1-HOP-Y (50))
Program Officer
Krotoski, Danuta
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Oregon Health and Science University
Schools of Medicine
United States
Zip Code
Merkens, Mark J; Sinden, Nancy L; Brown, Christine D et al. (2014) Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. J Pediatr 165:836-41.e1
DeBarber, Andrea E; Luo, Jenny; Star-Weinstock, Michal et al. (2014) A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. J Lipid Res 55:146-54
DeBarber, Andrea E; Luo, Jenny; Giugliani, Roberto et al. (2014) A useful multi-analyte blood test for cerebrotendinous xanthomatosis. Clin Biochem 47:860-3
He, Miao; Smith, Laurie D; Chang, Richard et al. (2014) The role of sterol-C4-methyl oxidase in epidermal biology. Biochim Biophys Acta 1841:331-5
Liu, Wei; Xu, Libin; Lamberson, Connor R et al. (2013) Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. J Lipid Res 54:244-53
Kanungo, Shibani; Soares, Neelkamal; He, Miao et al. (2013) Sterol metabolism disorders and neurodevelopment-an update. Dev Disabil Res Rev 17:197-210
Simon, Anna; Drenth, Joost P H; Matern, Dietrich et al. (2013) Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers. Mol Genet Metab 108:166-71
Hager, Elizabeth J; Piganelli, Jon D; Tse, Hubert M et al. (2012) Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS). J Inherit Metab Dis 35:159-68
DeBarber, Andrea E; Eroglu, Yasemen; Merkens, Louise S et al. (2011) Smith-Lemli-Opitz syndrome. Expert Rev Mol Med 13:e24
Monson, Dinelli M; DeBarber, Andrea E; Bock, Charles J et al. (2011) Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign. Arch Ophthalmol 129:1087-8

Showing the most recent 10 out of 13 publications